T5I (p.Thr5Ile) variant of TSC2 (Tuberin)
T5I (p.Thr5Ile) in TSC2 (Tuberin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- rs2084667325
- gnomAD 16-2048614-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 17.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available